Familial lecithin-cholesterol acyltransferase deficiency.

Abstract

Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive disorder from a heritable defect in esterification of plasma cholesterol. In 1968, the disease was described by Gjone and Norum in Norway. Our case was a 38-year-old woman. Her disease was manifested by presence of lower extremities edema, proteinuria, corneal opacities, increased plasma cholesterol, and hemolytic anemia. Suspicion of the disease was based on renal biopsy, which revealed mesangial expansion and capillary wall widening with clusters of foamy cells in the mesangium. Immunofluorescence study was nonspecific, but specific findings of electron microscopy showed deposition of lipid in the glomerular basement membrane and mesangium. This is the first report of lecithin-cholesterol acyltransferase deficiency in Iran.The diagnosis was confirmed by a low high-density lipoprotein cholesterol concentration, decreased activity of lecithin-cholesterol acyltransferase in plasma, and positive familial history of the disease.

• Authors: Isa Jahanzad, Sakineh Amoueian, Armin Attaranzadeh
• Journal: Archives of Iranian medicine (Arch Iran Med) Vol. 12 Issue 2 Pg. 179-81 (Mar 2009) ISSN: 1029-2977 [Print] Iran
• PMID: 19249891 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Anemia, Hemolytic (complications, diagnosis)
• Corneal Opacity (complications, diagnosis)
• Diagnosis, Differential
• Edema (complications, diagnosis)
• Female
• Humans
• Hypercholesterolemia (complications, diagnosis)
• Iran
• Kidney (pathology)
• Lecithin Cholesterol Acyltransferase Deficiency (complications, diagnosis, pathology)
• Proteinuria (complications, diagnosis)